Variant: NM_002834.4(PTPN11):c.255C>T (p.His85=)

CA134659

36708 (ClinVar)

Gene: PTPN11

Condition: RASopathy

Inheritance Mode: Autosomal dominant inheritance

UUID: cc78505d-9b7f-4e98-be44-54c0653cc0f0

Approved on: 2017-04-18

Published on: 2018-12-10

HGVS expressions

NM_002834.4:c.255C>T
NM_002834.4(PTPN11):c.255C>T (p.His85=)
NM_002834.3:c.255C>T
NM_080601.1:c.255C>T
NM_001330437.1:c.255C>T
NM_080601.2:c.255C>T
ENST00000351677.6:c.255C>T
ENST00000392597.5:c.255C>T
ENST00000635625.1:n.255C>T
NC_000012.12:g.112450435C>T
CM000674.2:g.112450435C>T
NC_000012.11:g.112888239C>T
CM000674.1:g.112888239C>T
NC_000012.10:g.111372622C>T
NG_007459.1:g.36704C>T

Benign

• Met criteria codes: BA1

Expert Panel

RASopathy VCEP

Criteria Specification Information

Evidence submitted by expert panel

RASopathy VCEP

The filtering allele frequency of the c.255C>T (p.His85=) variant in the PTPN11 gene is 7.417% (818/10402) of African chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)

Met criteria codes

• BA1: The filtering allele frequency of the c.255C>T (p.His85=) variant in the PTPN11 gene is 7.417% (818/10402) of African chromosomes by the Exome Aggregation Consortium, which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen RASopathy Expert Panel (BA1; PMID:29493581)